Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content


Main|Search|PHGKB
Search PHGKB:

Last Posted: Apr 15, 2024
spot light Highlights

Precision Medicine—Are We There Yet? A Narrative Review of Precision Medicine’s Applicability in Primary Care
W Evans et al, JPM, April 15, 2024

From the abstract: "Precision medicine (PM) has the potential to transform an individual’s health, moving from population-based disease prevention to more personalised management. There is however a tension between the two, with a real risk that this will exacerbate health inequalities and divert funds and attention from basic healthcare requirements leading to worse health outcomes for many. All areas of medicine should consider how this will affect their practice, with PM now strongly encouraged and supported by government initiatives and research funding. In this review, we discuss examples of PM in current practice and its emerging applications in primary care, such as clinical prediction tools that incorporate genomic markers and pharmacogenomic testing. "

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Vaidehi Jobanputra et al. NPJ Genom Med 2024 3 (1) 23

From the article: "GS has ushered in a new era in the diagnosis of genetic diseases, offering the potential for improved patient care. Now is the time for collective action to overcome challenges, implement best practices, and ensure that the benefits of GS are realized for all individuals affected by genetic diseases. Indeed, widespread and appropriate utilization of GS is critical for directing the emerging gene editing, gene therapy, and cell-based therapies for rare genetic disorders. Concerted policy, education, guideline, and care pathway efforts will drive significant advancements in precision medicine and improve health outcomes for patients with genetic conditions. "

Population Screening for Hereditary Hemochromatosis
Video Webinar, UNC Precision Public Health Network,

From the website: " Current data suggest that 1 in 300 non-Hispanic White individuals in the United States carry a genetic variation in the HFE gene (C282Y homozygosity) that accounts for most cases of hereditary hemochromatosis (HH). This variation can lead to iron overload and life-threatening complications, such as severe liver disease. However, complications are preventable with early diagnosis and periodic phlebotomies to remove excess iron from the body. In this CDC webinar, speakers discussed how knowledge about HH has evolved since the discovery of the HFE gene in 1997, current opportunities for clinical and public health action to prevent disease, and future research priorities to advance case detection and reduce clinical complications from HH. "

Training Institute for Dissemination and Implementation Research in Genomics and Precision Public Health (TIDR-GPPH)
UNC Precision Public Health Network, March 2024

From the website: "This facilitated course is intended to provide participants with a thorough grounding in conducting dissemination and implementation (D&I) research with a specific focus on genomics and precision public health.is. TIDIR-GPPH will be a hybrid course including training through open access Training Institute for Dissemination and Implementation Research in Cancer (TIDIRC) with assigned reading material and office hours and a 2-day in-person event. Faculty and guest lecturers consist of leading experts in D&I theories, models, and frameworks; intervention fidelity and adaptation; stakeholder engagement and partnership for D&I; research methods and study designs for D&I; and measures and outcomes for D&I. "

Search Result Summary


Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

TOP